Canonical Allele Identifier: CA379475710

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638553A>C (hg19) ; chr11:g.6617322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617322A>C , CM000673.2:g.6617322A>C	GRCh38
NC_000011.9:g.6638553A>C , CM000673.1:g.6638553A>C	GRCh37
NC_000011.8:g.6595129A>C	NCBI36
NG_008653.1:g.7140T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.373T>G	ENSP00000507321.1:p.Leu125Val
ENST00000299427.12:c.487T>G MANE Select	ENSP00000299427.6:p.Leu163Val
ENST00000428886.7:n.575T>G
ENST00000436873.7:c.291T>G
ENST00000524788.2:n.1499T>G
ENST00000524903.2:n.1615T>G
ENST00000528571.6:c.*227T>G	ENSP00000434647.1:n.*227T>G
ENST00000528807.2:n.143T>G
ENST00000530040.2:n.479+37T>G
ENST00000533371.6:c.-243T>G	ENSP00000437066.1:n.-243T>G
ENST00000534644.6:n.456+32T>G
ENST00000642892.1:c.-222+32T>G	ENSP00000494165.1:n.-222+32T>G
ENST00000643439.1:c.*227T>G	ENSP00000495849.1:n.*227T>G
ENST00000643479.1:n.516T>G
ENST00000643516.1:c.374T>G
ENST00000644151.1:n.1779T>G
ENST00000644218.1:c.487T>G	ENSP00000493574.1:p.Leu163Val
ENST00000644683.1:c.450+37T>G	ENSP00000494085.1:n.450+37T>G
ENST00000644810.1:c.230-169T>G	ENSP00000495895.1:n.230-169T>G
ENST00000644831.1:n.516T>G
ENST00000644933.1:c.-243T>G	ENSP00000496133.1:n.-243T>G
ENST00000645020.1:n.1515T>G
ENST00000645285.1:c.-243T>G	ENSP00000495058.1:n.-243T>G
ENST00000645331.1:n.706T>G
ENST00000645620.1:c.-222+37T>G	ENSP00000493657.1:n.-222+37T>G
ENST00000646777.1:n.516T>G
ENST00000647016.1:n.820T>G
ENST00000647152.1:c.-243T>G	ENSP00000495893.1:n.-243T>G
ENST00000647209.1:c.*356T>G	ENSP00000495558.1:n.*356T>G
ENST00000647346.1:n.1507T>G
ENST00000299427.10:c.487T>G	ENSP00000299427.6:p.Leu163Val
ENST00000428886.6:n.509T>G
ENST00000436873.6:c.450+37T>G	ENSP00000398136.2:n.450+37T>G
ENST00000524788.1:n.40T>G
ENST00000528571.5:c.*227T>G	ENSP00000434647.1:n.*227T>G
ENST00000533371.5:c.-243T>G	ENSP00000437066.1:n.-243T>G
ENST00000534644.5:n.472T>G
ENST00000611494.4:c.487T>G	ENSP00000484546.1:p.Leu163Val
NM_000391.3:c.487T>G	NP_000382.3:p.Leu163Val
NM_000391.4:c.487T>G MANE Select	NP_000382.3:p.Leu163Val